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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-130367540-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130367540&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130367540,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000474905.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "NM_080385.5",
"protein_id": "NP_525124.3",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": "ENST00000474905.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "ENST00000474905.6",
"protein_id": "ENSP00000417314.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": "NM_080385.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "ENST00000393213.7",
"protein_id": "ENSP00000376907.3",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "ENST00000461828.5",
"protein_id": "ENSP00000418183.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "ENST00000485477.5",
"protein_id": "ENSP00000420237.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "NM_001127441.2",
"protein_id": "NP_001120913.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "NM_001318223.2",
"protein_id": "NP_001305152.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "ENST00000466363.6",
"protein_id": "ENSP00000419025.2",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "NM_001127442.2",
"protein_id": "NP_001120914.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 403,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "ENST00000431780.6",
"protein_id": "ENSP00000393045.2",
"transcript_support_level": 2,
"aa_start": 336,
"aa_end": null,
"aa_length": 403,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_005250710.2",
"protein_id": "XP_005250767.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_005250712.2",
"protein_id": "XP_005250769.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_011516698.2",
"protein_id": "XP_011515000.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_011516703.2",
"protein_id": "XP_011515005.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_024446999.2",
"protein_id": "XP_024302767.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_024447000.2",
"protein_id": "XP_024302768.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_024447001.2",
"protein_id": "XP_024302769.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_047421035.1",
"protein_id": "XP_047276991.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_047421036.1",
"protein_id": "XP_047276992.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_047421037.1",
"protein_id": "XP_047276993.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 436,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser",
"transcript": "XM_047421038.1",
"protein_id": "XP_047276994.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 403,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "n.1229T>C",
"hgvs_p": null,
"transcript": "ENST00000495736.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA5",
"gene_hgnc_id": 15722,
"hgvs_c": "n.1548T>C",
"hgvs_p": null,
"transcript": "XR_007060171.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.18,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000474905.6",
"gene_symbol": "CPA5",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Leu336Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}